PMID: 31850058

Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.

Frontiers in genetics
R da Silva Francisco Junior, C Dos Santos Ferreira, JC Santos E Silva, D Terra Machado, Y Côrtes Martins, V Ramos, G Simões Carnivali, AB Garcia, E Medina-Acosta
2019

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-26093141-G-A HFE c.845G>A p.Cys282Tyr Missense 4/6 -
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
12-121176083-G-A ACADS c.625G>A p.Gly209Ser Missense 6/10 -
20-4680251-A-G PRNP c.385A>G p.Met129Val Missense 2/2 -
16-56548501-C-T BBS2 c.209G>A p.Ser70Asn Missense 2/17 -